Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76992002G>C , CM000675.2:g.76992002G>C | GRCh38 |
| NC_000013.10:g.77566137G>C , CM000675.1:g.77566137G>C | GRCh37 |
| NC_000013.9:g.76464138G>C | NCBI36 |
| NG_009064.1:g.5079G>C , LRG_692:g.5079G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636183.2:c.-97G>C | ENSP00000490181.2:n.-97G>C | |
| ENST00000377453.7:c.51G>C | ENSP00000366673.3:p.Gly17= | |
| NM_006493.2:c.51G>C , LRG_692t1:c.51G>C | NP_006484.1:p.Gly17= | |
| XM_011534917.1:c.51G>C | XP_011533219.1:p.Gly17= |